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NM_058216.3(RAD51C):c.635del (p.Arg212fs) AND Breast-ovarian cancer, familial, susceptibility to, 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001779202.2

Allele description [Variation Report for NM_058216.3(RAD51C):c.635del (p.Arg212fs)]

NM_058216.3(RAD51C):c.635del (p.Arg212fs)

Genes:
LOC129390903:MPRA-validated peak2919 silencer [Gene]
RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_058216.3(RAD51C):c.635del (p.Arg212fs)
HGVS:
  • NC_000017.11:g.58703259del
  • NG_023199.1:g.15658del
  • NM_058216.3:c.635delMANE SELECT
  • NP_478123.1:p.Arg212fs
  • LRG_314:g.15658del
  • NC_000017.10:g.56780620del
  • NM_058216.3:c.635delGMANE SELECT
  • NR_103872.2:n.510del
Protein change:
R212fs
Links:
dbSNP: rs2143798753
NCBI 1000 Genomes Browser:
rs2143798753
Molecular consequence:
  • NM_058216.3:c.635del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_103872.2:n.510del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 3
Synonyms:
RAD51C-Related Breast/Ovarian Cancer; Breast-ovarian cancer, familial 3
Identifiers:
MONDO: MONDO:0013253; MedGen: C3150659; Orphanet: 145; OMIM: 613399

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001623537Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 10, 2021) 		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study.

Li W, Shao D, Li L, Wu M, Ma S, Tan X, Zhong S, Guo F, Wang Z, Ye M.

J Ovarian Res. 2019 Aug 31;12(1):80. doi: 10.1186/s13048-019-0560-y.

PubMed [citation]
PMID:
31472684
PMCID:
PMC6717355

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge, SCV001623537.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024